Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr17:7578457C>A ENST00000420246.2 - 5 605 c.473G>T c.(472-474)cGc>cTc p.R158L TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 158 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 49 8.88839e-20 1.02165e-19 1 1 0 SOWAHD 347454 broad.mit.edu 37 X 118893114 118893114 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:118893114G>A ENST00000343905.3 + 1 539 c.484G>A c.(484-486)Gag>Aag p.E162K NM_001105576.2 NP_001099046.1 A6NJG2 ANR58_HUMAN sosondowah ankyrin repeat domain family member D 162 CGGGCGCCACGAGGAGCTCAT 0.716000 3 7 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106826320 106826320 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr7:106826320C>T ENST00000222574.4 + 4 659 c.473C>T c.(472-474)tCt>tTt p.S158F HBP1_ENST00000485846.1_Missense_Mutation_p.S158F|HBP1_ENST00000468410.1_Missense_Mutation_p.S158F NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 158 Poly-Ser. cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 GTGTCCTCTTCTTCGAAGAGT 0.413000 11 104 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69737350 69737350 + Silent SNP C C T rs35621443 byFrequency TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr15:69737350C>T ENST00000260363.4 + 19 2718 c.2601C>T c.(2599-2601)tcC>tcT p.S867S KIF23_ENST00000395392.2_Silent_p.S860S|KIF23_ENST00000558585.1_Silent_p.S580S|KIF23_ENST00000352331.4_Silent_p.S763S|KIF23_ENST00000559279.1_Silent_p.S763S|KIF23_ENST00000537891.1_Silent_p.S580S NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 867 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 AACTAGCCTCCGATGGGGAGA 0.383000 4 66 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229446 140229446 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr5:140229446G>A ENST00000378122.3 + 1 2090 c.1366G>A c.(1366-1368)Gcg>Acg p.A456T PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGCGTTCGCGCAGTCCGA 0.672000 16 127 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9356398 9356398 + Missense_Mutation SNP G G A rs150991757 byFrequency TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr12:9356398G>A ENST00000261336.2 - 2 261 c.233C>T c.(232-234)gCg>gTg p.A78V NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GTCCTTCTCCGCCACCAGGTC 0.512000 11 75 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105815542 105815542 + Missense_Mutation SNP T T C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr10:105815542T>C ENST00000353479.5 - 18 1975 c.1685A>G c.(1684-1686)aAt>aGt p.N562S COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.N562S NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 562 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCTCTCACCATTTTCCTGTTC 0.562000 6 41 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791755 110791755 + Missense_Mutation SNP G G T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr4:110791755G>T ENST00000327908.3 + 4 2065 c.1301G>T c.(1300-1302)tGg>tTg p.W434L LRIT3_ENST00000409621.2_Missense_Mutation_p.W434L|LRIT3_ENST00000594814.1_Missense_Mutation_p.W617L|LRIT3_ENST00000379920.3_Missense_Mutation_p.W572L Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 572 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GAACCTTTTTGGGAAGATGAT 0.428000 4 42 0.00909568 0.0095744 1 1 0 COL4A1 1282 broad.mit.edu 37 13 110830547 110830547 + Missense_Mutation SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr13:110830547G>C ENST00000375820.4 - 32 2611 c.2490C>G c.(2488-2490)ttC>ttG p.F830L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 830 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGAATCCGGGGAAACCCTTCT 0.517000 11 92 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19425376 19425376 + Missense_Mutation SNP A A C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:19425376A>C ENST00000338883.4 - 13 1773 c.1774T>G c.(1774-1776)Tgt>Ggt p.C592G MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.C27G|MAP3K15_ENST00000469203.2_Missense_Mutation_p.C424G NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 592 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TAAAGAAAACAACACCTTTCA 0.338000 6 27 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316948 11316948 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:11316948C>T ENST00000380712.3 + 6 535 c.467C>T c.(466-468)cCc>cTc p.P156L ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.P142L|AMELX_ENST00000348912.4_Missense_Mutation_p.P126L NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 142 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CCCATGCAGCCCCAGCCACCT 0.657000 7 54 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 338134 338134 + Missense_Mutation SNP C C G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr16:338134C>G ENST00000262320.3 - 11 2948 c.2577G>C c.(2575-2577)gaG>gaC p.E859D AXIN1_ENST00000354866.3_Missense_Mutation_p.E823D NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 859 DIX. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) AGTCCACCTTCTCCACTTTGC 0.622000 8 145 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49070352 49070352 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr13:49070352G>A ENST00000344532.3 - 14 1913 c.1490C>T c.(1489-1491)tCg>tTg p.S497L RCBTB2_ENST00000544492.1_Missense_Mutation_p.S223L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.S502L NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 497 BTB 2. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACCGCAGCCGAGAGCAGAGC 0.488000 5 48 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47259428 47259428 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr11:47259428G>A ENST00000256996.4 + 8 1259 c.1064G>A c.(1063-1065)cGa>cAa p.R355Q DDB2_ENST00000378600.3_Missense_Mutation_p.R166Q|DDB2_ENST00000378603.3_Missense_Mutation_p.R291Q|DDB2_ENST00000378601.3_3'UTR NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 355 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 GTTGTGGGCCGATACCCAGAT 0.498000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 15 61 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159522944 159522944 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:159522944C>T ENST00000389757.3 + 16 2722 c.2597C>T c.(2596-2598)gCg>gTg p.A866V AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.A866V NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 866 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TATATCCGGGCGGCCGTCCGA 0.438000 HNSCC(62;0.18) 9 53 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559724 140559724 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr5:140559724C>T ENST00000239444.2 + 1 2354 c.2109C>T c.(2107-2109)ctC>ctT p.L703L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 703 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTCTTCCTCTTCTCGGTGC 0.677000 35 205 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005143 74005143 + Missense_Mutation SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr17:74005143G>C ENST00000301607.3 - 22 4396 c.4143C>G c.(4141-4143)gaC>gaG p.D1381E EVPL_ENST00000586740.1_Missense_Mutation_p.D1403E NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1381 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCAGCTTCGGGTCCTTCTGGG 0.687000 18 121 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123657466 123657466 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:123657466G>A ENST00000422452.2 - 17 2844 c.2781C>T c.(2779-2781)ctC>ctT p.L927L TENM1_ENST00000371130.3_Silent_p.L927L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CGATGGCCACGAGGTCAAAGC 0.393000 4 29 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196711010 196711010 + Missense_Mutation SNP G G T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:196711010G>T ENST00000367429.4 + 19 3202 c.2962G>T c.(2962-2964)Gat>Tat p.D988Y NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 988 Sushi 17. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTCAGAAACAGATTGTCTCAG 0.343000 8 40 5.18039e-06 5.69274e-06 1 1 0 FRMPD4 9758 broad.mit.edu 37 X 12712510 12712510 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:12712510C>T ENST00000380682.1 + 9 1376 c.870C>T c.(868-870)gtC>gtT p.V290V NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 290 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TTAGCTTCGTCCCAAAAGATC 0.413000 12 41 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27064746 27064746 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr17:27064746G>A ENST00000268766.6 + 6 915 c.881G>A c.(880-882)cGc>cAc p.R294H AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 294 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) ACCAGTGTCCGCTGCAGAGGT 0.597000 13 84 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137715387 137715387 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr5:137715387C>T ENST00000314358.5 + 5 895 c.695C>T c.(694-696)tCt>tTt p.S232F NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 232 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ATGGAGGTGTCTGTAACTGAG 0.468000 7 40 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361452 51361452 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr19:51361452G>A ENST00000360617.3 + 3 374 c.374G>A c.(373-375)cGc>cAc p.R125H KLK3_ENST00000595952.1_Missense_Mutation_p.R82H|KLK3_ENST00000597483.1_Missense_Mutation_p.R82H|KLK3_ENST00000326003.2_Missense_Mutation_p.R125H|KLK3_ENST00000593997.1_Missense_Mutation_p.R125H P07288 KLK3_HUMAN kallikrein-related peptidase 3 125 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) ATGCTGCTCCGCCTGTCAGAG 0.627000 4 44 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1156628 1156628 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr11:1156628C>T ENST00000356191.2 + 10 637 c.637C>T c.(637-639)Cgg>Tgg p.R213W mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GGGACTTCAACGGGATGCCCG 0.617000 8 80 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99696765 99696765 + Missense_Mutation SNP C C G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr7:99696765C>G ENST00000303887.5 - 5 1108 c.463G>C c.(463-465)Gac>Cac p.D155H MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D155H NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 155 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CCCACAGAGTCAGCCCGCACT 0.517000 5 80 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82786270 82786270 + Missense_Mutation SNP A A G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr5:82786270A>G ENST00000265077.3 + 3 989 c.424A>G c.(424-426)Acg>Gcg p.T142A VCAN_ENST00000513984.1_Missense_Mutation_p.T142A|VCAN_ENST00000502527.2_Missense_Mutation_p.T142A|VCAN_ENST00000512590.2_Missense_Mutation_p.T94A|VCAN_ENST00000343200.5_Missense_Mutation_p.T142A|VCAN_ENST00000342785.4_Missense_Mutation_p.T142A NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 142 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CACACAAGACACGGTGTCACT 0.493000 12 47 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130282214 130282214 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr3:130282214G>A ENST00000358511.6 + 2 398 c.367G>A c.(367-369)Gca>Aca p.A123T COL6A6_ENST00000453409.2_Missense_Mutation_p.A123T NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 123 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTCTGCACCCGCAAATGGGAG 0.502000 4 36 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133846228 133846228 + Missense_Mutation SNP G G C rs143208937 TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr6:133846228G>C ENST00000355167.3 + 19 2272 c.1814G>C c.(1813-1815)cGa>cCa p.R605P EYA4_ENST00000452339.2_Missense_Mutation_p.R551P|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.R605P|EYA4_ENST00000430974.2_Missense_Mutation_p.R557P|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Missense_Mutation_p.R582P NM_172105.3 NP_742103.1 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 605 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GGAGATGGCCGAGATGAGGAG 0.403000 6 46 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114269129 114269129 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:114269129G>A ENST00000369604.1 - 6 882 c.399C>T c.(397-399)tgC>tgT p.C133C PHTF1_ENST00000447664.2_Silent_p.C133C|PHTF1_ENST00000369600.1_Silent_p.C80C|PHTF1_ENST00000369596.2_Silent_p.C80C|PHTF1_ENST00000393357.2_Silent_p.C133C|PHTF1_ENST00000357783.2_Silent_p.C133C|PHTF1_ENST00000369598.1_Silent_p.C133C Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 133 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTAGCATAAGGCACAAGGGTC 0.363000 3 32 0 0 1 0 0 NEUROD2 4761 broad.mit.edu 37 17 37762279 37762279 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr17:37762279G>A ENST00000302584.4 - 2 794 c.574C>T c.(574-576)Ctg>Ttg p.L192L NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 192 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) CCCTTGCACAGAGTCTGCACG 0.627000 5 42 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43668716 43668716 + Missense_Mutation SNP C C G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr15:43668716C>G ENST00000564079.1 + 3 463 c.223C>G c.(223-225)Caa>Gaa p.Q75E TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.Q75E NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 75 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CCATCCATCTCAACAGGGCCA 0.473000 OREG0023088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 60 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11918436 11918436 + Missense_Mutation SNP C C A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:11918436C>A ENST00000376468.3 - 2 320 c.223G>T c.(223-225)Ggt>Tgt p.G75C NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 75 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) TTCCAGACACCTGTGGGACGG 0.632000 5 50 0.014758 0.0153729 1 1 0 RANBP6 26953 broad.mit.edu 37 9 6014242 6014242 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr9:6014242G>A ENST00000259569.5 - 1 1376 c.1366C>T c.(1366-1368)Cgt>Tgt p.R456C RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 456 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TCCATGGTACGTAACAGAGCT 0.403000 4 49 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108381234 108381234 + Missense_Mutation SNP T T A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr11:108381234T>A ENST00000265843.4 - 6 5110 c.5000A>T c.(4999-5001)aAg>aTg p.K1667M EXPH5_ENST00000525344.1_Missense_Mutation_p.K1660M|EXPH5_ENST00000428840.1_Missense_Mutation_p.K1591M|EXPH5_ENST00000443411.1_Missense_Mutation_p.K1479M NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1667 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCGGATTTCTTCACATGCTT 0.488000 26 111 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32311168 32311168 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr10:32311168C>T ENST00000302418.4 - 17 2389 c.1932G>A c.(1930-1932)aaG>aaA p.K644K NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 644 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) CAGTCAATGACTTGATTTTGG 0.353000 T """RET, ALK""" NSCLC 4 42 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82922403 82922403 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr11:82922403G>A ENST00000393389.3 + 5 1449 c.517G>A c.(517-519)Ggc>Agc p.G173S ANKRD42_ENST00000526731.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G60S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G172S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G145S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G173S|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G173S Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 145 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TGGGCGGCTTGGCTGCTTGCA 0.403000 4 52 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 40 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123344033 123344033 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr12:123344033G>A ENST00000253083.4 + 23 2481 c.2356G>A c.(2356-2358)Gag>Aag p.E786K NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 786 I/LWEQ. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GGTCGACAAGGAGATGGCGGC 0.622000 10 48 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40650738 40650738 + Splice_Site SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr21:40650738G>A ENST00000342449.3 - 10 1012 c.932_splice c.e10-1 p.P312_splice BRWD1_ENST00000380800.3_Splice_Site_p.P312_splice|BRWD1_ENST00000333229.2_Splice_Site_p.P312_splice NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AGGGGACGTGGGCTTTAAAAG 0.308000 4 52 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27521506 27521506 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:27521506G>A ENST00000296098.4 + 2 510 c.240G>A c.(238-240)tcG>tcA p.S80S TRIM54_ENST00000380075.2_Silent_p.S80S NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 80 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCCCATCGTGCAGGCATG 0.567000 5 45 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017372 93017372 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr8:93017372C>T ENST00000523629.1 - 6 1166 c.712G>A c.(712-714)Gaa>Aaa p.E238K RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 238 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E238K(1)|p.E201K(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCCCGTTTTCGTTCACATCG 0.542000 9 131 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 6 40 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 1930368 1930368 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr6:1930368C>T ENST00000380815.4 - 7 1009 c.740G>A c.(739-741)cGa>cAa p.R247Q GMDS_ENST00000530927.1_Missense_Mutation_p.R217Q NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 247 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GCCCCAATCTCGTTTGGCATC 0.418000 8 56 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110491150 110491150 + Missense_Mutation SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:110491150G>C ENST00000324068.1 - 11 1722 c.1555C>G c.(1555-1557)Cag>Gag p.Q519E CAPN6_ENST00000541758.1_Missense_Mutation_p.Q264E NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 519 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ACAGTGATCTGAGTAACTACT 0.428000 17 121 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60890184 60890184 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr20:60890184C>T ENST00000252999.3 - 59 8013 c.7947G>A c.(7945-7947)caG>caA p.Q2649Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2649 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGCCTGCAGCTGGGACTGCA 0.662000 5 25 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820734 43820734 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr15:43820734G>A ENST00000382031.1 + 5 7808 c.7777G>A c.(7777-7779)Gag>Aag p.E2593K MAP1A_ENST00000300231.5_Missense_Mutation_p.E2355K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2355K P78559 MAP1A_HUMAN microtubule-associated protein 1A 2355 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGTTCCCTCTGAGGATTGTGC 0.627000 6 49 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68419123 68419123 + Splice_Site SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr8:68419123G>C ENST00000297770.4 - 6 750 c.534_splice c.e6-1 p.L179_splice CPA6_ENST00000518549.1_Splice_Site_p.L179_splice|CPA6_ENST00000297769.4_Splice_Site_p.L31_splice NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 179 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CGTCTGCCCAGCTGAAAACAA 0.408000 5 49 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61336370 61336370 + Silent SNP C C G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:61336370C>G ENST00000402291.1 + 16 1924 c.1683C>G c.(1681-1683)acC>acG p.T561T KIAA1841_ENST00000356719.2_Silent_p.T561T|KIAA1841_ENST00000295031.5_Silent_p.T561T|KIAA1841_ENST00000453873.1_Silent_p.T561T NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 561 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AAGAATATACCACTGGATCTG 0.274000 4 65 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 927057 927057 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr7:927057G>A ENST00000407192.1 + 3 2725 c.208G>A c.(208-210)Gtg>Atg p.V70M GET4_ENST00000265857.3_Missense_Mutation_p.V123M Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 123 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCCTGAGCGCGTGACCTTTGT 0.622000 21 73 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949108 27949108 + Missense_Mutation SNP G G T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr9:27949108G>T ENST00000379992.2 - 6 2011 c.1562C>A c.(1561-1563)tCc>tAc p.S521Y LINGO2_ENST00000308675.3_Missense_Mutation_p.S521Y NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 521 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GGTGTCATTGGAGTCGGTCAT 0.463000 49 81 1.22102e-19 1.38752e-19 1 1 0 UNC79 57578 broad.mit.edu 37 14 94088832 94088832 + Missense_Mutation SNP G G T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr14:94088832G>T ENST00000553484.1 + 31 5473 c.5319G>T c.(5317-5319)caG>caT p.Q1773H UNC79_ENST00000256339.4_Missense_Mutation_p.Q1574H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q1751H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q1751H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1751 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACCTCCTTCAGAAGTCGTTTG 0.577000 8 92 0.0477658 0.049243 1 1 0 YLPM1 56252 broad.mit.edu 37 14 75264903 75264903 + Missense_Mutation SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr14:75264903G>C ENST00000325680.7 + 5 3027 c.2903G>C c.(2902-2904)gGa>gCa p.G968A YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.G773A NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 773 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ATGGAGGGAGGAACAGCAGTA 0.453000 4 63 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510180 71510180 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr4:71510180G>A ENST00000396073.3 + 9 3318 c.3037G>A c.(3037-3039)Gac>Aac p.D1013N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1013 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAGAACTGTTGACCTTACTCC 0.418000 9 62 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77287021 77287021 + Missense_Mutation SNP A A G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:77287021A>G ENST00000341514.6 + 16 3390 c.3235A>G c.(3235-3237)Act>Gct p.T1079A ATP7A_ENST00000350425.4_Missense_Mutation_p.T82A|ATP7A_ENST00000343533.5_Missense_Mutation_p.T1001A NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1079 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CATTGTGGGAACTGCTGAAAG 0.398000 23 144 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161480679 161480679 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:161480679G>A ENST00000271450.6 + 5 713 c.675G>A c.(673-675)gcG>gcA p.A225A FCGR2A_ENST00000367972.4_Silent_p.A224A|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 225 integral to membrane|plasma membrane IgG binding|receptor activity p.A224A(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGTCATTGCGACTGCTGTAG 0.502000 9 128 0 0 1 0 0 RHBDD2 57414 broad.mit.edu 37 7 75511238 75511238 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr7:75511238C>T ENST00000006777.6 + 2 405 c.270C>T c.(268-270)ttC>ttT p.F90F RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR NM_001040456.1 NP_001035546.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 90 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 CTGGCAATTTCGAGAGAACCG 0.532000 12 141 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2786382 2786382 + Missense_Mutation SNP C C A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr12:2786382C>A ENST00000399655.1 + 40 5216 c.4951C>A c.(4951-4953)Ctg>Atg p.L1651M CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1657M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1692M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1651M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L1699M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1670M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1676M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1679M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1668M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1671M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1651M NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1699 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGCGCTGTCTCTGCAGGTGAG 0.637000 3 23 1 1 1 1 0 OGDHL 55753 broad.mit.edu 37 10 50960022 50960022 + Silent SNP G G T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr10:50960022G>T ENST00000374103.4 - 6 685 c.600C>A c.(598-600)acC>acA p.T200T OGDHL_ENST00000419399.1_Silent_p.T143T|OGDHL_ENST00000432695.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 200 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCTGGCAGTAGGTGTTCTGGG 0.552000 15 141 4.93089e-13 5.54033e-13 1 1 0 INSM2 84684 broad.mit.edu 37 14 36004851 36004851 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr14:36004851G>A ENST00000307169.3 + 1 1604 c.1393G>A c.(1393-1395)Ggt>Agt p.G465S NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) CTCCGAACGCGGTGCCCCACT 0.637000 12 71 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729567 18729567 + Silent SNP C C T rs75089468 TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr8:18729567C>T ENST00000440756.2 - 3 909 c.807G>A c.(805-807)ttG>ttA p.L269L PSD3_ENST00000327040.8_Silent_p.L269L|PSD3_ENST00000523619.1_Silent_p.L204L Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 269 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TCTGCTCTTTCAAGAAACCAA 0.582000 4 67 0 0 1 0 0 FAM166B 730112 broad.mit.edu 37 9 35562534 35562534 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr9:35562534G>A ENST00000399742.2 - 5 652 c.582C>T c.(580-582)ttC>ttT p.F194F FAM166B_ENST00000492890.1_Intron NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 194 kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 AGCTGGAGCCGAAGAGGAAGC 0.627000 5 14 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60907184 60907184 + Silent SNP T T C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr15:60907184T>C ENST00000309157.4 - 2 249 c.180A>G c.(178-180)caA>caG p.Q60Q RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000335670.6_Intron NM_002943.3 NP_002934.1 P35398 RORA_HUMAN RAR-related orphan receptor A 63 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TGTGCTCAAGTTGAGACCAGA 0.478000 3 32 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48309526 48309526 + Missense_Mutation SNP A A C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr3:48309526A>C ENST00000354698.3 + 4 417 c.345A>C c.(343-345)caA>caC p.Q115H ZNF589_ENST00000440261.2_Missense_Mutation_p.Q114H|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 115 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGGAAATCAACTCCACCCAG 0.507000 12 43 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19748784 19748784 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr19:19748784C>T ENST00000203556.4 - 10 1009 c.872G>A c.(871-873)cGa>cAa p.R291Q GMIP_ENST00000445806.2_Missense_Mutation_p.R291Q|GMIP_ENST00000587238.1_Missense_Mutation_p.R291Q NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 291 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CGACACGATTCGCTGCTTGGC 0.687000 5 33 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18807521 18807521 + Missense_Mutation SNP C C A rs140809384 by1000genomes TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:18807521C>A ENST00000400664.1 + 1 98 c.46C>A c.(46-48)Cag>Aag p.Q16K NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 16 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TTTGGATATGCAGCTGACCGG 0.597000 4 54 0.00909568 0.0095744 1 1 0 CHST15 51363 broad.mit.edu 37 10 125769719 125769719 + Silent SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr10:125769719G>A ENST00000346248.5 - 8 2274 c.1632C>T c.(1630-1632)aaC>aaT p.N544N CHST15_ENST00000435907.1_Silent_p.N544N NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 544 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CCAGCCTAGCGTTGAAGGGCC 0.622000 12 55 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242707144 242707144 + Silent SNP C C G TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:242707144C>G ENST00000321264.4 + 10 1535 c.1326C>G c.(1324-1326)ctC>ctG p.L442L D2HGDH_ENST00000403782.1_Silent_p.L308L|D2HGDH_ENST00000486953.1_3'UTR NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 442 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACCTGCACCTCAATGTGACGG 0.697000 10 61 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36213897 36213897 + Splice_Site SNP A A T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr19:36213897A>T ENST00000420124.1 + 6 2723 c.2722_splice c.e6-1 p.D908_splice KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site_p.D908_splice GCTGCAATAGATACATCATCG 0.607000 3 18 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768073 140768073 + Missense_Mutation SNP T T C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr5:140768073T>C ENST00000519479.1 + 1 622 c.622T>C c.(622-624)Tac>Cac p.Y208H PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGAAATCCTACCACTTGAC 0.433000 19 81 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157771735 157771735 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:157771735G>A ENST00000358292.3 - 5 907 c.856C>T c.(856-858)Cgc>Tgc p.R286C FCRL1_ENST00000368176.3_Missense_Mutation_p.R286C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286C|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 286 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCTCACTGCGCTGGGCCCCC 0.562000 14 50 0 0 1 0 0 FBXO9 26268 broad.mit.edu 37 6 52957298 52957298 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr6:52957298C>T ENST00000244426.6 + 7 927 c.755C>T c.(754-756)aCg>aTg p.T252M FBXO9_ENST00000323557.7_Missense_Mutation_p.T242M|FBXO9_ENST00000370939.3_Missense_Mutation_p.T208M NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 252 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) GTTCCGTACACGTCCTGGAGA 0.418000 11 54 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139092480 139092480 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr9:139092480C>T ENST00000371746.3 - 2 332 c.214G>A c.(214-216)Gag>Aag p.E72K LHX3_ENST00000371748.5_Missense_Mutation_p.E67K NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 67 LIM zinc-binding 1. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) AAGCAGCGCTCGGCCAGTGGC 0.617000 6 56 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088895 94088895 + Missense_Mutation SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr14:94088895G>C ENST00000553484.1 + 31 5536 c.5382G>C c.(5380-5382)gaG>gaC p.E1794D UNC79_ENST00000256339.4_Missense_Mutation_p.E1595D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1772D|UNC79_ENST00000393151.2_Missense_Mutation_p.E1772D Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1772 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTGAGGGGGAGAAGCCTGGGG 0.562000 7 69 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459324 92459324 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr15:92459324C>T ENST00000318445.6 + 2 496 c.282C>T c.(280-282)ctC>ctT p.L94L SLCO3A1_ENST00000424469.2_Silent_p.L94L NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 94 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CGCTCATCCTCTTCGTGAGCT 0.677000 12 60 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74511429 74511429 + Silent SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr16:74511429G>C ENST00000422840.2 - 12 1829 c.1830C>G c.(1828-1830)ctC>ctG p.L610L GLG1_ENST00000205061.5_Silent_p.L610L|GLG1_ENST00000447066.2_Silent_p.L599L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 610 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 ACTCCCGTGAGAGCTGCATGA 0.443000 7 36 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202257694 202257694 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:202257694G>A ENST00000332624.3 - 10 1479 c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 351 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GATCTACTACGAAGTTCCTTT 0.388000 3 15 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685383 248685383 + Missense_Mutation SNP G G A rs138211669 TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:248685383G>A ENST00000343414.4 + 1 468 c.436G>A c.(436-438)Ggt>Agt p.G146S NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCTCTGGCCGGTGGAGCATG 0.567000 4 27 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67421524 67421524 + Missense_Mutation SNP C C A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chrX:67421524C>A ENST00000355520.5 - 11 1603 c.962G>T c.(961-963)tGt>tTt p.C321F OPHN1_ENST00000540071.1_Missense_Mutation_p.C321F NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 321 PH. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 CCTTCTCACACAGTACTTCAG 0.423000 6 62 2.7689e-08 3.07655e-08 1 1 0 TANC1 85461 broad.mit.edu 37 2 160082198 160082198 + Splice_Site SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:160082198G>A ENST00000263635.6 + 24 4048 c.e24-1 TANC1_ENST00000454300.1_Splice_Site NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TTGTTTTGCAGGAAATGCTGC 0.498000 4 23 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089526 43089526 + Missense_Mutation SNP G G C TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr10:43089526G>C ENST00000359467.3 - 5 986 c.872C>G c.(871-873)tCt>tGt p.S291C ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 291 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ATCATGTTTAGAAAGGGTGGA 0.398000 16 63 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127965882 127965882 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr7:127965882G>A ENST00000223073.1 - 11 1306 c.1192C>T c.(1192-1194)Cca>Tca p.P398S RBM28_ENST00000415472.2_Missense_Mutation_p.P257S NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 398 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TCATTCTCTGGAGAAGCAGCT 0.423000 3 24 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999603 72999603 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr18:72999603C>T ENST00000322038.5 + 2 2690 c.2106C>T c.(2104-2106)agC>agT p.S702S TSHZ1_ENST00000580243.1_Silent_p.S747S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 747 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACCCGCTGAGCGCTTTGCAGT 0.572000 8 31 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805689 115805689 + Silent SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr9:115805689C>T ENST00000374227.3 - 4 1236 c.1209G>A c.(1207-1209)aaG>aaA p.K403K ZFP37_ENST00000553380.1_Silent_p.K418K|ZFP37_ENST00000555206.1_Silent_p.K404K Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 403 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ATTCATATGGCTTCTCACCTG 0.398000 4 60 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43970042 43970042 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:43970042G>A ENST00000282406.4 + 22 3494 c.3384G>A c.(3382-3384)atG>atA p.M1128I NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1128 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCACTTCATGAATGGGATAT 0.413000 9 48 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410822 153410822 + Splice_Site SNP C C A rs10888561 by1000genomes TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:153410822C>A ENST00000368725.2 - 2 16 c.16_splice c.e2-1 p.G6_splice NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TTTCAAAAAGCCTTCAGGAAA 0.408000 4 22 1 1 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16959732 16959733 + RNA INS - - GGGCCTGCAGCA rs12063740 TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:16959732_16959733insGGGCCTGCAGCA ENST00000412962.1 - 0 74 CTCCTCCAGCTGGGCCTGCTTC 0.668 7 26 --- --- --- --- SESN2 83667 broad.mit.edu 37 1 28598377 28598378 + Frame_Shift_Ins INS - - T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr1:28598377_28598378insT ENST00000253063.3 + 3 670_671 c.349_350insT c.(349-351)catfs p.H117fs NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 117 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CTACATTGCCATCATGGTGAGC 0.569 18 50 --- --- --- --- DOK1 1796 broad.mit.edu 37 2 74783880 74783881 + Frame_Shift_Ins INS - - T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr2:74783880_74783881insT ENST00000233668.5 + 5 1754_1755 c.1085_1086insT c.(1084-1086)tgafs p.*362fs DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Frame_Shift_Ins_p.*223fs NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 362 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GATCCCATCTATGATGAACCTG 0.574 11 72 --- --- --- --- RFC1 5981 broad.mit.edu 37 4 39314498 39314500 + In_Frame_Del DEL CTC CTC - TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr4:39314498_39314500delCTC ENST00000381897.1 - 11 1388_1390 c.1255_1257delGAG c.(1255-1257)del p.E419del RFC1_ENST00000349703.2_In_Frame_Del_p.E419del NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 419 BRCT. DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 GTTCAATAGACTCCAGCACGCCT 0.409 21 88 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 11 14 --- --- --- --- C1QTNF3 114899 broad.mit.edu 37 5 34033456 34033457 + Frame_Shift_Ins INS - - A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr5:34033456_34033457insA ENST00000382065.3 - 3 1228_1229 c.522_523insT c.(520-525)cagcccfs p.QP174fs C1QTNF3_ENST00000231338.7_Frame_Shift_Ins_p.QP101fs NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 101 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) CCTTTGGGGCCATGCTGCCCCC 0.569 7 75 --- --- --- --- SCAPER 49855 broad.mit.edu 37 15 76958026 76958026 + Frame_Shift_Del DEL T T - TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr15:76958026delT ENST00000538941.2 - 21 2814 c.1875delA c.(1873-1875)aafs p.K625fs SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs|SCAPER_ENST00000563290.1_Frame_Shift_Del_p.K871fs NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 870 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TCTTTTTGGCTTTTTTTTTAT 0.338 2 4 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 5 8 --- --- --- --- C19orf35 374872 broad.mit.edu 37 19 2279061 2279061 + Frame_Shift_Del DEL G G - TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b4991bb-1c29-4989-ba16-b36180121d29 b45db2b0-cae9-4399-9c1b-01f4e8b49de3 g.chr19:2279061delG ENST00000342063.3 - 3 227 c.134delC c.(133-135)ctfs p.P45fs NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 45 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGACCCAGGGGTCCGGAG 0.687 2 4 --- --- --- ---